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[Notes to the article Nekl R., Mockóva, A., Bierhanzlová, J., Kutilová J. "Meconium Ileus as a first symptom of cystic fibrosis in a newborn"]. [electronic resource] by
- Pohunek, Petr
- Macek, Milan
- Balascáková, Miroslava
- Pelikán, Ludek
- Böhmová, Kristýna
- Skalická, Veronika
- Brázová, Jitka
- Vávrová, Vera
- Fischerová, Tereza
- Zemková, Daniela
Producer: 20070424
In:
Casopis lekaru ceskych vol. 146
Availability: No items available.
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Pilot newborn screening project for cystic fibrosis in the Czech Republic: defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease. [electronic resource] by
- Balascaková, Miroslava
- Holubová, Andrea
- Skalická, Veronika
- Zemková, Dana
- Kracmar, Petr
- Gonsorcíkova, Lucie
- Camajová, Jana
- Piskácková, Tereza
- Lebl, Jan
- Drevínek, Pavel
- Gregor, Vladimír
- Vávrová, Vera
- Votava, Felix
- Macek, Milan
Producer: 20090731
In:
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society vol. 8
Availability: No items available.
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Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA. [electronic resource] by
- Krulišová, Veronika
- Balaščaková, Miroslava
- Skalická, Veronika
- Piskáčková, Tereza
- Holubová, Andrea
- Paděrová, Jana
- Křenková, Petra
- Dvořáková, Lenka
- Zemková, Dana
- Kračmar, Petr
- Chovancová, Blanka
- Vávrová, Věra
- Stambergová, Alexandra
- Votava, Felix
- Macek, Milan
Producer: 20121204
In:
European journal of pediatrics vol. 171
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Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia. [electronic resource] by
- Zieg, Jakub
- Krepelova, Anna
- Baradaran-Heravi, Alireza
- Levtchenko, Elena
- Guillén-Navarro, Encarna
- Balascakova, Miroslava
- Sukova, Martina
- Seeman, Tomas
- Dusek, Jiri
- Simankova, Nadezda
- Rosik, Tomas
- Skalova, Sylva
- Lebl, Jan
- Boerkoel, Cornelius F
Producer: 20111110
In:
Pediatric rheumatology online journal vol. 9
Availability: No items available.
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Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations. [electronic resource] by
- Sommerburg, Olaf
- Krulisova, Veronika
- Hammermann, Jutta
- Lindner, Martin
- Stahl, Mirjam
- Muckenthaler, Martina
- Kohlmueller, Dirk
- Happich, Margit
- Kulozik, Andreas E
- Votava, Felix
- Balascakova, Miroslava
- Skalicka, Veronika
- Stopsack, Marina
- Gahr, Manfred
- Macek, Milan
- Mall, Marcus A
- Hoffmann, Georg F
Producer: 20140821
In:
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society vol. 13
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A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening. [electronic resource] by
- Weidler, Sophia
- Stopsack, Konrad H
- Hammermann, Jutta
- Sommerburg, Olaf
- Mall, Marcus A
- Hoffmann, Georg F
- Kohlmüller, Dirk
- Okun, Jürgen G
- Macek, Milan
- Votava, Felix
- Krulišová, Veronika
- Balaščaková, Miroslava
- Skalická, Veronika
- Lee-Kirsch, Min Ae
- Stopsack, Marina
Producer: 20180104
In:
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society vol. 15
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Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations. [electronic resource] by
- Křenková, Petra
- Piskáčková, Tereza
- Holubová, Andrea
- Balaščaková, Miroslava
- Krulišová, Veronika
- Čamajová, Jana
- Turnovec, Marek
- Libik, Malgorzata
- Norambuena, Patricia
- Štambergová, Alexandra
- Dvořáková, Lenka
- Skalická, Veronika
- Bartošová, Jana
- Kučerová, Tereza
- Fila, Libor
- Zemková, Dana
- Vávrová, Věra
- Koudová, Monika
- Macek, Milan
- Krebsová, Alice
- Macek, Milan
Producer: 20131230
In:
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society vol. 12
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Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. [electronic resource] by
- Azad, Abul Kalam
- Rauh, Robert
- Vermeulen, François
- Jaspers, Martine
- Korbmacher, Judit
- Boissier, Brigitte
- Bassinet, Laurence
- Fichou, Yann
- des Georges, Marie
- Stanke, Frauke
- De Boeck, Kris
- Dupont, Lieven
- Balascáková, Miroslava
- Hjelte, Lena
- Lebecque, Patrick
- Radojkovic, Dragica
- Castellani, Carlo
- Schwartz, Marianne
- Stuhrmann, Manfred
- Schwarz, Martin
- Skalicka, Veronika
- de Monestrol, Isabelle
- Girodon, Emmanuelle
- Férec, Claude
- Claustres, Mireille
- Tümmler, Burkhard
- Cassiman, Jean-Jacques
- Korbmacher, Christoph
- Cuppens, Harry
Producer: 20090923
In:
Human mutation vol. 30
Availability: No items available.
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Correlation between genetic and geographic structure in Europe. [electronic resource] by
- Lao, Oscar
- Lu, Timothy T
- Nothnagel, Michael
- Junge, Olaf
- Freitag-Wolf, Sandra
- Caliebe, Amke
- Balascakova, Miroslava
- Bertranpetit, Jaume
- Bindoff, Laurence A
- Comas, David
- Holmlund, Gunilla
- Kouvatsi, Anastasia
- Macek, Milan
- Mollet, Isabelle
- Parson, Walther
- Palo, Jukka
- Ploski, Rafal
- Sajantila, Antti
- Tagliabracci, Adriano
- Gether, Ulrik
- Werge, Thomas
- Rivadeneira, Fernando
- Hofman, Albert
- Uitterlinden, André G
- Gieger, Christian
- Wichmann, Heinz-Erich
- Rüther, Andreas
- Schreiber, Stefan
- Becker, Christian
- Nürnberg, Peter
- Nelson, Matthew R
- Krawczak, Michael
- Kayser, Manfred
Producer: 20081028
In:
Current biology : CB vol. 18
Availability: No items available.
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10.
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An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population. [electronic resource] by
- Lu, Timothy Tehua
- Lao, Oscar
- Nothnagel, Michael
- Junge, Olaf
- Freitag-Wolf, Sandra
- Caliebe, Amke
- Balascakova, Miroslava
- Bertranpetit, Jaume
- Bindoff, Laurence Albert
- Comas, David
- Holmlund, Gunilla
- Kouvatsi, Anastasia
- Macek, Milan
- Mollet, Isabelle
- Nielsen, Finn
- Parson, Walther
- Palo, Jukka
- Ploski, Rafal
- Sajantila, Antti
- Tagliabracci, Adriano
- Gether, Ulrik
- Werge, Thomas
- Rivadeneira, Fernando
- Hofman, Albert
- Uitterlinden, André Gerardus
- Gieger, Christian
- Wichmann, Heinz-Erich
- Ruether, Andreas
- Schreiber, Stefan
- Becker, Christian
- Nürnberg, Peter
- Nelson, Matthew Roberts
- Kayser, Manfred
- Krawczak, Michael
Producer: 20091002
In:
European journal of human genetics : EJHG vol. 17
Availability: No items available.
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